Upp1-KO

Nomenclature

C57BL/6Smoc-Upp1em1Smoc

Cat. NO.

TBD

Strain State

Developing

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Gene Summary

Gene Symbol
Upp1

Synonyms

Up， Upp， UPase， UdRPase， AI325217

NCBI ID

22271

MGI ID

1097668

Ensembl ID

ENSMUSG00000020407

Pubmed

Upp1

Human Ortholog

UPP1

Model Description

Exon 4 of Upp1 gene was deleted to generate Upp1 knockout mice.

Disease Connection

Mitochondrial Dna Depletion Syndrome 1

Phenotype(s)

MGI:3830854
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Tymp-KO(NM-KO-2112215) mice.

Reference(s)

Lopez LC, Akman HO, Garcia-Cazorla A, Dorado B, Marti R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K, Hirano M, Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet. 2009 Feb 15;18(4):714-22

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